Aliases for KLHL9 Gene
Aliases for KLHL9 Gene
External Ids for KLHL9 Gene
- HGNC: 18732
- Entrez Gene: 55958
- Ensembl: ENSG00000198642
- OMIM: 611201
- UniProtKB: Q9P2J3
Previous GeneCards Identifiers for KLHL9 Gene
- GC00U991232
- GC09U900612
- GC09M021322
Summaries for KLHL9 Gene
-
This gene encodes a protein that belongs to the kelch repeat-containing family, and contains an N-terminal BTB/POZ domain, a BACK domain and six C-terminal kelch repeats. The encoded protein is a component of a complex with cullin 3-based E3 ligase, which plays a role in mitosis. This protein complex is a cell cycle regulator, and functions in the organization and integrity of the spindle midzone in anaphase and the completion of cytokinesis. The complex is required for the removal of the chromosomal passenger protein aurora B from mitotic chromosomes. [provided by RefSeq, Jul 2016]
GeneCards Summary for KLHL9 Gene
KLHL9 (Kelch Like Family Member 9) is a Protein Coding gene. Diseases associated with KLHL9 include Klhl9-Related Early-Onset Distal Myopathy. Among its related pathways are Class I MHC mediated antigen processing and presentation and Ubiquitin mediated proteolysis. Gene Ontology (GO) annotations related to this gene include ubiquitin-protein transferase activity. An important paralog of this gene is KLHL13.
UniProtKB/Swiss-Prot for KLHL9 Gene
-
Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for mitotic progression and cytokinesis. The BCR(KLHL9-KLHL13) E3 ubiquitin ligase complex mediates the ubiquitination of AURKB and controls the dynamic behavior of AURKB on mitotic chromosomes and thereby coordinates faithful mitotic progression and completion of cytokinesis.
Additional gene information for KLHL9 Gene
- Monarch Initiative
- Search for KLHL9 at DataMed
- Search for KLHL9 at HumanCyc
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KLHL9 Gene
Genomics for KLHL9 Gene
GeneHancer (GH) Regulatory Elements for KLHL9 Gene
Promoters and enhancers for KLHL9 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around KLHL9 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the KLHL9 gene promoter:
-
- POU3F2
- Bach1
- SRF
- SRF (504 AA)
- Egr-2
- POU3F2 (N-Oct-5a)
- POU3F2 (N-Oct-5b)
- Brachyury
- AP-1
Regulatory Element Products
Genomic Locations for KLHL9 Gene
Genomic Locations for KLHL9 Gene
- chr9:21,329,671-21,335,430
- (GRCh38/hg38)
- Size:
- 5,760 bases
- Orientation:
- Minus strand
- chr9:21,329,670-21,335,429
- (GRCh37/hg19)
- Size:
- 5,760 bases
- Orientation:
- Minus strand
Genomic View for KLHL9 Gene
Genes around KLHL9 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 9p21.3 by Entrez Gene
- 9p21.3 by HGNC
- 9p21.3 by Ensembl
KLHL9 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for KLHL9 Gene
Proteins for KLHL9 Gene
-
Protein details for KLHL9 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9P2J3-KLHL9_HUMAN
- Recommended name:
- Kelch-like protein 9
- Protein Accession:
- Q9P2J3
- Q8TCQ2
Protein attributes for KLHL9 Gene
- Size:
- 617 amino acids
- Molecular mass:
- 69429 Da
- Quaternary structure:
-
- Component of the BCR(KLHL9-KLHL13) E3 ubiquitin ligase complex, at least composed of CUL3, KLHL9, KLHL13 and RBX1. Interacts with AURKB.
- SequenceCaution:
-
- Sequence=BAA92592.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for KLHL9 Gene
Post-translational modifications for KLHL9 Gene
Other Protein References for KLHL9 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for KLHL9
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-
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-
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Protein Products
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- antibodies-online: Search results for 2 available KLHL9 Proteins ranked by validation data
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-
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Assay Products
No data available for DME Specific Peptides for KLHL9 Gene
Domains & Families for KLHL9 Gene
Gene Families for KLHL9 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for KLHL9 Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for KLHL9 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for KLHL9 Gene
Function for KLHL9 Gene
Molecular function for KLHL9 Gene
- UniProtKB/Swiss-Prot Function:
- Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for mitotic progression and cytokinesis. The BCR(KLHL9-KLHL13) E3 ubiquitin ligase complex mediates the ubiquitination of AURKB and controls the dynamic behavior of AURKB on mitotic chromosomes and thereby coordinates faithful mitotic progression and completion of cytokinesis.
Phenotypes From GWAS Catalog for KLHL9 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004842 | contributes_to ubiquitin-protein transferase activity | IDA | 17543862 |
| GO:0005515 | protein binding | IEA | -- |
Phenotypes for KLHL9 Gene
Animal Model Products
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-
CRISPR Products
-
OriGene CRISPR knockouts for KLHL9
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- Overview of 81 available KLHL9 gene related products
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-
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-
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miRNA for KLHL9 Gene
- miRTarBase miRNAs that target KLHL9
-
- hsa-mir-330-5p (MIRT038249)
- hsa-mir-5589-3p (MIRT324763)
- hsa-mir-6894-3p (MIRT522812)
- hsa-mir-190a-3p (MIRT522813)
- hsa-mir-374b-5p (MIRT522814)
- hsa-mir-374a-5p (MIRT522815)
- hsa-mir-4763-5p (MIRT522816)
- hsa-mir-5011-5p (MIRT522817)
- hsa-mir-410-3p (MIRT522818)
- hsa-mir-5692c (MIRT522819)
- hsa-mir-5692b (MIRT522820)
- hsa-mir-369-3p (MIRT522821)
- hsa-mir-5580-3p (MIRT522822)
- hsa-mir-1277-5p (MIRT522823)
- hsa-mir-1303 (MIRT616589)
- hsa-mir-642a-5p (MIRT616590)
- hsa-mir-6778-3p (MIRT616591)
- hsa-mir-6719-3p (MIRT616592)
- hsa-mir-4526 (MIRT616593)
- hsa-mir-3660 (MIRT616594)
- hsa-mir-6730-3p (MIRT616595)
- hsa-mir-301b-5p (MIRT616596)
- hsa-mir-301a-5p (MIRT616597)
- hsa-mir-4469 (MIRT616598)
- hsa-mir-2276-5p (MIRT616599)
- hsa-mir-6892-3p (MIRT616600)
miRNA Products
Inhibitory RNA Products
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- Overview of 81 available KLHL9 gene related products
Clone Products
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- VectorBuilder custom plasmid, inducible vectors for KLHL9
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KLHL9
- Applied Biological Materials Clones for KLHL9
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for KLHL9
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KLHL9 Gene
Localization for KLHL9 Gene
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| mitochondrion | 1 |
| peroxisome | 1 |
| nucleus | 1 |
- Cytosol (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005829 | cytosol | TAS | -- |
| GO:0030496 | midbody | IDA | 19995937 |
| GO:0031463 | Cul3-RING ubiquitin ligase complex | IDA | 17543862 |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for KLHL9 Gene
Pathways & Interactions for KLHL9 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Class I MHC mediated antigen processing and presentation | ||
| 2 | Ubiquitin mediated proteolysis | ||
| 3 | Innate Immune System |
.61
|
|
| 4 | Aurora B signaling | ||
Pathways by source for KLHL9 Gene
1 BioSystems pathway for KLHL9 Gene
4 Reactome pathways for KLHL9 Gene
1 KEGG pathway for KLHL9 Gene
UniProtKB/Swiss-Prot Q9P2J3-KLHL9_HUMAN
- Pathway: Protein modification; protein ubiquitination.
Interacting Proteins for KLHL9 Gene
GPS-Prot Interaction Network for KLHL9
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007049 | cell cycle | IEA | -- |
| GO:0016567 | protein ubiquitination | IEA | -- |
| GO:0032465 | regulation of cytokinesis | IMP | 17543862 |
| GO:0043687 | post-translational protein modification | TAS | -- |
| GO:0051301 | cell division | IEA | -- |
No data available for SIGNOR curated interactions for KLHL9 Gene
Transcripts for KLHL9 Gene
mRNA/cDNA for KLHL9 Gene
- (2) REFSEQ mRNAs :
- (11) Additional mRNA sequences :
- (23) Selected AceView cDNA sequences:
- (1) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000359039 5710 bps (uc003zoy.4)
Unigene Clusters for KLHL9 Gene
CRISPR Products
-
OriGene CRISPR knockouts for KLHL9
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KLHL9
- genomics-online: gRNA clones - Search results for 81 available KLHL9 gene related products
- Overview of 81 available KLHL9 gene related products
- Applied Biological Materials CRISPR for KLHL9
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for KLHL9
- GenScript: Design CRISPR guide RNA sequences for KLHL9
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for KLHL9
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KLHL9
- genomics-online: shRNA clones - Search results for 81 available KLHL9 gene related products
- Overview of 81 available KLHL9 gene related products
Clone Products
- Sino Biological Human cDNA Clone for KLHL9
- VectorBuilder custom plasmid, inducible vectors for KLHL9
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for KLHL9
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KLHL9
- Applied Biological Materials Clones for KLHL9
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for KLHL9 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Kidney (Urinary System)
- Juxtaglomerular Cells Afferent Arteriole
-
Smooth Muscle (Muscoskeletal System)
- Juxtaglomerular Cells Afferent Arteriole
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KLHL9 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of KLHL9 Gene:
KLHL9SOURCE GeneReport for Unigene cluster for KLHL9 Gene:
Hs.701778Evidence on tissue expression from TISSUES for KLHL9 Gene
- Nervous system(4.9)
- Lung(4.1)
Primer Products
-
OriGene qPCR primer pairs and template standards for KLHL9
-
OriGene qPCR primer pairs for KLHL9
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KLHL9 Gene
Orthologs for KLHL9 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | KLHL9 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | KLHL9 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | LOC100688162 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Klhl9 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Klhl9 16 34 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
OneToMany | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| chicken (Gallus gallus) |
Aves | KLHL13 34 33 |
|
OneToMany | |
| lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
OneToMany | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | klhl13 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.31679 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | klhl13 34 33 |
|
OneToMany | |
| wufc15b07 33 |
|
||||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany | |
| Cin.6929 33 |
|
||||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.6929 33 |
|
- Species where no ortholog for KLHL9 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Evolution for KLHL9 Gene
- ENSEMBL:
- Gene Tree for KLHL9 (if available)
- TreeFam:
- Gene Tree for KLHL9 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for KLHL9: view image
Paralogs for KLHL9 Gene
Paralogs for KLHL9 Gene
(22) SIMAP similar genes for KLHL9 Gene using alignment to 2 proteins:
- KLHL9_HUMAN
- Q58EZ4_HUMAN
Variants for KLHL9 Gene
| SNP ID | Clin | Chr 09 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs869312950 | uncertain-significance, Inborn genetic diseases | 21,333,897(-) | A/T | coding_sequence_variant, missense_variant | |
| rs780821611 | likely-pathogenic, not provided | 21,334,300(-) | G/A/C | coding_sequence_variant, missense_variant | |
| rs980802126 | uncertain-significance, not specified | 21,334,417(-) | C/G/T | coding_sequence_variant, missense_variant | |
| rs1000025937 | -- | 21,335,189(-) | C/G | 5_prime_UTR_variant | |
| rs1000413361 | -- | 21,335,459(-) | T/A | upstream_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2764150 | CNV | gain+loss | 21179565 |
Residual Variation Intolerance Score:
12.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.15;
38.98% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for KLHL9 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLHL9 Gene
Disorders for KLHL9 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| klhl9-related early-onset distal myopathy |
|
|
Search KLHL9 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for KLHL9
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for KLHL9 Gene
Publications for KLHL9 Gene
- Associations of 9p21 variants with cutaneous malignant melanoma, nevi, and pigmentation phenotypes in melanoma-prone families with and without CDKN2A mutations. (PMID: 20574843) Yang XR … Goldstein AM (Familial cancer 2010) 3 44 58
- The Cul3-KLHL21 E3 ubiquitin ligase targets aurora B to midzone microtubules in anaphase and is required for cytokinesis. (PMID: 19995937) Maerki S … Peter M (The Journal of cell biology 2009) 3 4 58
- A Cul3-based E3 ligase removes Aurora B from mitotic chromosomes, regulating mitotic progression and completion of cytokinesis in human cells. (PMID: 17543862) Sumara I … Peter M (Developmental cell 2007) 3 4 58
- Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10718198) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4 58
- Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
Products for KLHL9 Gene
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 44 available KLHL9 Antibodies ranked by validation data
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Sources for KLHL9 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
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